R17Q (p.Arg17Gln) variant of UNG (Uracil-DNA glycosylase)
R17Q (p.Arg17Gln) in UNG (Uracil-DNA glycosylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- rs1438461547
- gnomAD 12-109098364-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 12.00
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)
- Structural context available
- Literature evidence available